In addition, germline mutations in CHEK2 have been found with a prevalence of 4% in patients with PanC (Mandelker et al. 2017), and a number of genetic alterations of the proofreading domain of DNA polymerases, such as POLE or POLD1, have been associated with the risk for human cancers (Barbari and Shcherbakova 2017). The gene discussed is CHEK2; the disease is cancer.